Incidental Mutation 'IGL02972:Slc7a6'
ID365861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a6
Ensembl Gene ENSMUSG00000031904
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 6
SynonymsLAT-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.386) question?
Stock #IGL02972
Quality Score
Status
Chromosome8
Chromosomal Location106168857-106198706 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106179427 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 97 (C97Y)
Ref Sequence ENSEMBL: ENSMUSP00000034378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034378] [ENSMUST00000211824] [ENSMUST00000212377] [ENSMUST00000212421] [ENSMUST00000212802]
Predicted Effect probably damaging
Transcript: ENSMUST00000034378
AA Change: C97Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: C97Y

DomainStartEndE-ValueType
Pfam:AA_permease_2 45 467 1.2e-66 PFAM
Pfam:AA_permease 50 471 2.1e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211824
AA Change: C97Y

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000212377
Predicted Effect probably benign
Transcript: ENSMUST00000212421
Predicted Effect possibly damaging
Transcript: ENSMUST00000212802
AA Change: C97Y

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213020
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 36,978,520 I105F possibly damaging Het
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chst15 T C 7: 132,269,173 D211G probably damaging Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Nol12 A G 15: 78,940,599 T209A probably damaging Het
Olfr1384 G A 11: 49,514,091 G151D probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
P3h1 C A 4: 119,247,960 Q712K possibly damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc43a1 T G 2: 84,860,118 V460G probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Txlng A G X: 162,807,555 M94T probably damaging Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G probably benign Het
Other mutations in Slc7a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Slc7a6 APN 8 106179240 missense probably benign 0.01
IGL01149:Slc7a6 APN 8 106179600 missense probably damaging 0.96
IGL02232:Slc7a6 APN 8 106196574 missense possibly damaging 0.87
IGL03082:Slc7a6 APN 8 106193222 splice site probably null
IGL03108:Slc7a6 APN 8 106194517 missense probably damaging 0.99
R0062:Slc7a6 UTSW 8 106189631 missense possibly damaging 0.79
R0062:Slc7a6 UTSW 8 106189632 missense probably damaging 0.97
R0325:Slc7a6 UTSW 8 106194517 missense probably damaging 0.99
R1803:Slc7a6 UTSW 8 106192456 missense possibly damaging 0.70
R1928:Slc7a6 UTSW 8 106193488 unclassified probably benign
R5912:Slc7a6 UTSW 8 106179657 missense probably benign
R6317:Slc7a6 UTSW 8 106192467 missense probably damaging 0.98
R6370:Slc7a6 UTSW 8 106195437 missense probably benign 0.44
R7030:Slc7a6 UTSW 8 106195974 missense possibly damaging 0.64
R7944:Slc7a6 UTSW 8 106179607 missense possibly damaging 0.65
R7945:Slc7a6 UTSW 8 106179607 missense possibly damaging 0.65
R8314:Slc7a6 UTSW 8 106168958 unclassified probably benign
R8369:Slc7a6 UTSW 8 106193164 missense probably damaging 0.99
R8397:Slc7a6 UTSW 8 106193533 missense probably damaging 1.00
R8889:Slc7a6 UTSW 8 106195902 missense probably damaging 1.00
RF008:Slc7a6 UTSW 8 106195398 missense probably benign 0.13
Posted On2015-12-18